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Mosaic sex chromosome constitution in a patient with klinefelter's syndrome who developed metastatic sarcoma of the lung

 

 

M.K. DhaliwalI; L.C.StrongII; S. PathakI

Departments of Cell BiologyI and Experimental Pediatrics , The University of Texas M.D. Anderson Cancer Center, Houston, TX 77030

 

 

ABSTRACT

A 20-year-old white male with sarcoma of the lung and clinical features of Klinefelter's syndrome was studied cytogenetically. This patient showed multiple cell lines with 49,XXYYY, 48,XXYY, 47,XXY and 46,XY chromosome constitution in his first blood sample. In his second sample received a year later he showed only 49,XXYYY and 48,XXYY. Along with this case study, a review of the literature showing constitutional sex chromosome anomalies and predisposition to certain human neoplasms is also presented.

Keywords: Mosaic; Sex chromosome; Klinefelter's syndrome; Sarcoma of the lung.

 

 

REFERENCES

Abidi, S.M.N., Griffiths, M., Oscier, D.G., Mufti, G.J. and Hamblin, T.J. (1986). Primary myelodysplastic syndrome with complex chromosomal rearrangements in a patient with Klinefelter's syndrome. J. Med. Genet. 23: 183-185.

Alimena, G., Hillstrom, R., Casalone, R., Gallo, E., Mitelman, F. and Pasquali, F. (1985). Cytogenetic pattern in leukemic cells of patients with constitutional chromosome anomalies. Cancer Genet. Cytogenet. 16 : 207-218.

Ardunio, L.J. (1967). Carcinoma of prostate in sex chromatin positive (XXY/XY) Klinefelter's syndrome. J. Urol. 98: 234-240.

Atichartakarn, V., Punyammalee, B., Wongsasant, B. and Jooter, S. (1986). Acute nonlymphocytic leukemia with a translocation (1 ;3)(p36 ;q21) in an XYY man. Cancer Genet. Cytogenet. 21: 79-83.

Becher, R. (1986). Klinefelter's syndrome and malignant lymphoma. Cancer Genet. Cytogenet. 21: 271-273.

Becker, K.L. (1972). Clinical and therapeutic experiences with Klinefelter's syndrome. Fertil. Steril. 23:568-578.

Benitez, J., Valcarcel, E., Ramos, C., Ayuso C. and Cascos, A.S. (1987). Frequency of constitutional chromosome alterations in patients with hematologic neoplasias. Cancer Genet. Cytogenet. 24: 345-354.

Borges, W.H., Nicklas, J.W. and Hamm, C.W. (1967). Prezygotic determinants in acute leukemia. J. Pediatrics 70: 180-184.

Chaganti, R.S.K., Jhanwar, S.C., Arlin, Z.A. and Clarkson, B.D. (1982). Chronic myelogenous leukemia in an XYY male. Cancer Genet. Cytogenet. 5: 223-226.

Coley, G.M., Otis, R.D. and Clark, W.E. (1971). Multiple primary tumors including bilateral breast cancers in a man with Klinefelter's syndrome. Cancer 27: 1476-1481.

Curry, W.A., McKay, C.E., Richardson, R.L. and Greco, F.A. (1981). Klinefelter's syndrome and mediastinal germ cell neoplasms. J. Urol. 125: 127-129.

Dodge, O.G., Jackson, A.W. and Muldal, S. (1969). Breast cancer and interstitial cell tumor in a patient with Klinefelter's syndrome. Cancer 21: 1027-1032.

Ellis, S.J., Crockard, A. and Barnand, R.O. (1986). Klinefelter's syndrome, cerebral germinoma, chiari malformation, and syrinx: A case report. Neurosurgery 18: 220-222.

Ellison, H.S., Scheuer, S.A. and Eicher, E.R. (1980). Metastatic breast carcinoma with positive oestrogen and progesterone receptors in a man with Klinefelter's syndrome. South Med. J. 73: 1392-1396.

Ferrari, I., Verissimo, J.M.T. and Prates, J.C.C. (1969). Case Report: 47,XXY karyotype in a patient with Paget's disease. Birth Defects V: 17-18.

Fujimoto, Y., Monden, Y., Nakahara, K. and Kawashima, Y. (1985). Benign mediastinal teratoma associated with Klinefelter's syndrome. Jpn. J. Surg. 15: 221-224.

Fujita, K. and Fujita, H.M. (1976). Klinefelter's syndrome and bladder cancer. J. Urol. 116: 836-837.

Gale, G.B. and Toledano, S.R. (1984). Congenital acute lymphocytic leukemia in a newborn with Klinefelter's syndrome. Am. J. Pediat-Hematol. Oncol. 6: 338-339.

Geraedst, J.P.M., Mol, A., Briet, E., Hartgrink-Groeneweld, C.A. and Den Ottolander, G.J. (1980). Klinefelter syndrome: Predisposition to acute non-lymphocytic leukemia? (letter). Lancet 1: 774.

German, J. (ed.) (1983). Chromosome mutation and neoplasia. Alan R. Liss, New York.

Gustavson, K.H., Gamstorp, I. and Mewling, S. (1975). Bilateral teratoma of testis in two brothers with 47,XXY Klinefelter's syndrome. Clin. Genet. 8: 5-10.

Harnden, D.G., Maclean, N. and Langlands, A.O. (1971). Carcinoma of the breast and Klinefelter's syndrome. J. Med. Genet. 8: 460-461.

Horsman, D.E., Pantzar, J.T., Dill, F.J. and Kalousek, D.K. (1987). Klinefelter.s syndrome and acute leukemia. Cancer Genet. Cytogenet. 26: 375-376.

Isurugi, K., Imao, S., Hirose, K. and Aoki, H. (1977). Seminoma in Klinefelter's syndrome with 47,XXY, 15S +karyotype. Cancer 39: 2041-2047.

Jackson, A.W., Muldal, S., Ockey, C.H. and O'Connor, P.J. (1965). Carcinoma of male breast in association with Klinefelter syndrome. Br. Med. J. 1: 223-225.

Kemp, N.H., Stafford, J.L. and Tanner, R.K. (1961). Acute leukemia and Klinefelter's syndrome. Lancet 2:434-435.

Knyrim, K., Higi, M., Hossfeld, D.K., Seeber, S. and Schmidt, C.G. (1981). Autonomous cortisol secretion by a metastatic Leydig cell carcinoma associated with Klinefelter's syndrome. J.Cancer Res. Clin. Oncol 100: 85-93.

Lubs, H.A. (1962). Testicular size in Klinefelter's syndrome in men over fifty: Report of a case with XXY/XY mosaicism. N. Engl. J. Med. 267: 326-331.

Lynch, H.T., Kaplan, A.R. and Lynch, J.F. (1974). Klinefelter's syndrome and cancer: A family study. JAMA 229: 809-811.

MacSween, R.N.M. (1965). Reticulum-cell sarcoma and rheumatoid arthritis in a patient with XY/XXY/XXXY Klinefelter's syndrome and normal intelligence. Lancet 1: 460-461.

Malin, S.R. and Walker, F.A. (1972). Effects of the WYY karyotype in one of two brothers with congenital adrenal hyperplasia. Clin. Genet. 3:490-494.

Mamunes, P., Lapidus, P.H., Abbott, J.A. and Roath, S. (1961). Acute leukemia and Klinefelter's syndrome. Lancet 2:26-27.

Mann, B.D., Sparkes, R.S., Kern, D.H. and Morton, D.L. (1983). Chromosomal abnormalities of a mediastinal embryonal cell carcinoma in a patient with 47,XXY Klinefelter syndrome: Evidence for premeiotic origin of a germ cell tumor. Cancer Genet. Cytogenet. 8: 191-196.

McNeil, M.M., Leong, A.S.Y. and Sage, R.E. (1981). Primary mediastinal embryonal carcinoma in association with Klinefelter's syndrome. Cancer 47: 343-345.

Midro, A.T., Wojtukiewicz, M., Bielawiec, M. and Sawicka, A. (1987). XYY syndrome and acute myeloblastic leukemia. Cancer Genet. Cytogenet. 24: 363-365.

Moore, M.A.S., Ekert, H., Fitzgerald, M.G. and Carmichael, A. (1974). Evidence for the clonal origin of chronic myeloid leukemia from a sex chromosome mosaic: Clinical, cytogenetic and marrow culture studies. Blood 43: 15-22.

Mukerjee, D., Bowen, J. and Anderson, D.E. (1970). Simian Papovavirus 40 transformation of cells from cancer patient with XY/XXY mosaic Klinefelter's syndrome. Cancer Res. 30:1769-1772.

Muts-Homsma, S.J.M., Muller, H.P. and Geraedst, J.P.M. (1981). Klinefelter's syndrome and acute non-lymphocytic leukemia. Blut 44: 15-20.

Nagata, K., Hirano, E., Takihara, H., Takaxa, M. and Sakatoku, J. (1978). Klinefelter's syndrome and testicular teratoma. Bull. Yamaguchi, Med. Sch. 25: 209-212.

Ohyashiki, K., Oshimura, M., Toyoda, T., Sakai, N., Ito, H., Yamamoto, K. and Tonomura, A. (1984). Chronic myelogeneous leukemia with a complex Ph¹ translocation in an XYY male. Cancer Genet. Cytogenet. 11: 215-219.

Ohyashiki, K., Yoshida, M.A., Ohyashiki, J., Block, A.W., Dabski, K. and Sandberg, A.A. (1985). Chromosome changes in mycosis fungoides in an XYY male. Cancer Genet. Cytogenet. 18: 295-302.

Pathak, S. (1979). Cytogenetic research techniques in human and laboratory animals that can be most profitably applied to livestock. J. Dairy Sci. 62: 836-843.

Rosano, M., Delellis, M. and Massara, B. (1974). Cariotipo XYY e medulloblastoma. Acta Genet. Med. Gemellol. 23 : 259-263.

Sakurai, M. and Sandberg, A.A. (1976). The chromosomes and causation of human cancer and leukemia: XVIII. The missing Y in acute myeloblastic leukemia (AML) and Ph¹ -positive chronic myelocytic leukemia (CML). Cancer 38: 762-769.

Sanchez, A.G., Villanueva, A.G. and Redondo, C. (1986). Lobular carcinoma of the breast in a patient with Klinefelter's syndrome: A case with bilateral, synchronous, histologically different breast tumors. Cancer 57: 1181-1183.

Sandberg, A.A. (1983). The X chromosome in human neoplasia, including sex chromatin and congenital conditions with X chromosome anomalies. In: Cytogenetics of mammalian X chromosome (Sandberg, A.A., ed.). Part B, Alan R. Liss, New York, pp. 459-498.

Schimke, R.N., Madigan, c.L., Silver, B.J., Fabian, C.J. and Stephens, R.L. (1983). Chorio-carcinoma, thyrotoxicosis, and the Klinefelter syndrome. Cancer Genet. Cytogenet. 9: 1-8.

Sogge, M.R., McDonald, S.D. and Cofold, P.B. (1979). The malignant potential of the dysgenetic germ cell in Klinefelter's syndrome. Am. J. Med. 66:515-518.

Sohn, K. and Boggs, D.R. (1974). Klinefelter's syndrome, LSD usage, and acute lymphoblastic leukemia. Clin. Genet. 6: 20-22.

Stewart, D.A., Netley, C.T. and Park, E. (1982). Summary of clinical findings of children with 47,XXY, 47,XYY, and 47,XXX karyotypes. Birth Defects 18: 1-5.

Storm, P.B., Fallon, B. and Bunge, R.G. (1976). Mediastinal choriocarcinoma in a chromatin-positive boy. J. Urol. 97: 838-840.

Talarmin, F.M., Gendron, Y. and Gautier, D. (1985). Association syndrome de Klinefelter et cancer de la thyroide. Presse Med. 14: No. 38, 1972.

Tough, I.M., Baikie, A.G., Harnden, D.S., King, M.J., Court Brown, W.M., Buckton, K.E., Jacobs, P.A. and McBride, J.A. (1961). Cytogenetic studies in chronic myeloid leukemia and acute leukemia associated with mongolism. Lancet 1: 411-417.

Tsung, S.H. and Heckman, M.G. (1974). Klinefelter syndrome, immunological disorders and malignant neoplasm: Report of a case. Arch. Pathol. 98: 351-354.

Wald, N., Borges, W.H., Li, C.C., Turner, U.H. and Harnois, M.C. (1961). Leukemia associated with mongolism. Lancet I: 2228.

Weetman, A.P. and Borysiewiez, L.K. (1980). Androgen production in a patient with Klinefelter's syndrome and choriocarcinoma. Br. Med. J. 2: 585-586.

Whang-Peng, J., Kao-Shan, C.S., Lee, E.C., Bunn, P.A., Carney, N.D., Gazadar, A.F. and Minna, J.D. (1982). Specific chromosome defect association with human small-cell lung cancer: Deletion 3p (14-23). Science 251: 181-182.